300 Citationer (Scopus)

Abstract

Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms.

OriginalsprogEngelsk
TidsskriftEuropean journal of human genetics : EJHG
Vol/bind18
Udgave nummer5
Sider (fra-til)511-8
Antal sider8
ISSN1018-4813
DOI
StatusUdgivet - maj 2010
Udgivet eksterntJa

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